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Q68CQ7

- GL8D1_HUMAN

UniProt

Q68CQ7 - GL8D1_HUMAN

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Protein

Glycosyltransferase 8 domain-containing protein 1

Gene

GLT8D1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 3 out of 5- Experimental evidence at protein leveli

Functioni

GO - Molecular functioni

  1. transferase activity, transferring glycosyl groups Source: UniProtKB-KW
Complete GO annotation...

Keywords - Molecular functioni

Glycosyltransferase, Transferase

Protein family/group databases

CAZyiGT8. Glycosyltransferase Family 8.

Names & Taxonomyi

Protein namesi
Recommended name:
Glycosyltransferase 8 domain-containing protein 1 (EC:2.4.1.-)
Gene namesi
Name:GLT8D1
Synonyms:GALA4A
ORF Names:AD-017, MSTP137, UNQ572/PRO1134
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:24870. GLT8D1.

Subcellular locationi

Topology

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Topological domaini1 – 77CytoplasmicSequence Analysis
Transmembranei8 – 2821Helical; Signal-anchor for type II membrane proteinSequence AnalysisAdd
BLAST
Topological domaini29 – 371343LumenalSequence AnalysisAdd
BLAST

GO - Cellular componenti

  1. integral component of membrane Source: UniProtKB-KW
  2. membrane Source: UniProtKB
Complete GO annotation...

Keywords - Cellular componenti

Membrane

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA134947079.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 371371Glycosyltransferase 8 domain-containing protein 1PRO_0000288528Add
BLAST

Amino acid modifications

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Glycosylationi249 – 2491N-linked (GlcNAc...)1 Publication
Glycosylationi257 – 2571N-linked (GlcNAc...)Sequence Analysis

Keywords - PTMi

Glycoprotein

Proteomic databases

MaxQBiQ68CQ7.
PaxDbiQ68CQ7.
PRIDEiQ68CQ7.

PTM databases

PhosphoSiteiQ68CQ7.

Expressioni

Gene expression databases

BgeeiQ68CQ7.
CleanExiHS_GLT8D1.
ExpressionAtlasiQ68CQ7. baseline and differential.
GenevestigatoriQ68CQ7.

Organism-specific databases

HPAiHPA010588.

Interactioni

Protein-protein interaction databases

BioGridi120935. 1 interaction.
STRINGi9606.ENSP00000266014.

Structurei

3D structure databases

ProteinModelPortaliQ68CQ7.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Sequence similaritiesi

Belongs to the glycosyltransferase 8 family.Curated

Keywords - Domaini

Signal-anchor, Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGiNOG74598.
GeneTreeiENSGT00390000016670.
HOGENOMiHOG000112730.
HOVERGENiHBG055240.
InParanoidiQ68CQ7.
OMAiPIDFVPN.
OrthoDBiEOG7RBZ8R.
PhylomeDBiQ68CQ7.
TreeFamiTF332433.

Family and domain databases

Gene3Di3.90.550.10. 1 hit.
InterProiIPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view]
PfamiPF01501. Glyco_transf_8. 1 hit.
[Graphical view]
SUPFAMiSSF53448. SSF53448. 1 hit.

Sequences (2)i

Sequence statusi: Complete.

This entry describes 2 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q68CQ7-1) [UniParc]FASTAAdd to Basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide

        10         20         30         40         50
MSFRKVNIII LVLAVALFLL VLHHNFLSLS SLLRNEVTDS GIVGPQPIDF
60 70 80 90 100
VPNALRHAVD GRQEEIPVVI AASEDRLGGA IAAINSIQHN TRSNVIFYIV
110 120 130 140 150
TLNNTADHLR SWLNSDSLKS IRYKIVNFDP KLLEGKVKED PDQGESMKPL
160 170 180 190 200
TFARFYLPIL VPSAKKAIYM DDDVIVQGDI LALYNTALKP GHAAAFSEDC
210 220 230 240 250
DSASTKVVIR GAGNQYNYIG YLDYKKERIR KLSMKASTCS FNPGVFVANL
260 270 280 290 300
TEWKRQNITN QLEKWMKLNV EEGLYSRTLA GSITTPPLLI VFYQQHSTID
310 320 330 340 350
PMWNVRHLGS SAGKRYSPQF VKAAKLLHWN GHLKPWGRTA SYTDVWEKWY
360 370
IPDPTGKFNL IRRYTEISNI K
Length:371
Mass (Da):41,935
Last modified:May 29, 2007 - v2
Checksum:i43492FB4E678F3D0
GO
Isoform 2 (identifier: Q68CQ7-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     216-259: YNYIGYLDYK...LTEWKRQNIT → VNCLPNTPLP...FIPNLKPAFL
     260-371: Missing.

Note: No experimental confirmation available.

Show »
Length:259
Mass (Da):28,544
Checksum:iEF8FB0768DA499AC
GO

Sequence cautioni

The sequence AAQ13652.1 differs from that shown. Reason: Frameshift at positions 26, 52, 66, 75, 85, 300, 309, 315, 317 and 349. Curated

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti50 – 501F → C in AAQ13652. 1 PublicationCurated
Sequence conflicti201 – 2011D → G in CAH18681. (PubMed:17974005)Curated
Sequence conflicti301 – 3011P → L in AAQ13652. 1 PublicationCurated
Sequence conflicti349 – 3491W → G in AAQ13652. 1 PublicationCurated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti210 – 2101R → H.1 Publication
Corresponds to variant rs2276812 [ dbSNP | Ensembl ].
VAR_032443

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei216 – 25944YNYIG…RQNIT → VNCLPNTPLPTILFNGKRLQ IQGTLLLQFTLPNHFIPNLK PAFL in isoform 2. 1 PublicationVSP_025705Add
BLAST
Alternative sequencei260 – 371112Missing in isoform 2. 1 PublicationVSP_025706Add
BLAST

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271710 mRNA. Translation: CAC19666.1.
AF157318 mRNA. Translation: AAF67484.1.
AY358579 mRNA. Translation: AAQ88942.1.
AK027517 mRNA. Translation: BAB55170.1.
AK075031 mRNA. Translation: BAC11363.1.
CR749821 mRNA. Translation: CAH18681.1.
BC119670 mRNA. Translation: AAI19671.1.
BC119671 mRNA. Translation: AAI19672.1.
AF175227 mRNA. Translation: AAQ13652.1. Frameshift.
CCDSiCCDS2862.1. [Q68CQ7-1]
RefSeqiNP_001010983.1. NM_001010983.2. [Q68CQ7-1]
NP_001265209.1. NM_001278280.1. [Q68CQ7-1]
NP_001265210.1. NM_001278281.1. [Q68CQ7-1]
NP_060916.1. NM_018446.3. [Q68CQ7-1]
NP_690909.1. NM_152932.2. [Q68CQ7-1]
XP_006713323.1. XM_006713260.1. [Q68CQ7-1]
UniGeneiHs.297304.

Genome annotation databases

EnsembliENST00000266014; ENSP00000266014; ENSG00000016864. [Q68CQ7-1]
ENST00000394783; ENSP00000378263; ENSG00000016864. [Q68CQ7-1]
ENST00000478968; ENSP00000419612; ENSG00000016864. [Q68CQ7-1]
ENST00000491606; ENSP00000418853; ENSG00000016864. [Q68CQ7-1]
GeneIDi55830.
KEGGihsa:55830.
UCSCiuc003dfi.4. human. [Q68CQ7-1]

Polymorphism databases

DMDMi152125896.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AJ271710 mRNA. Translation: CAC19666.1 .
AF157318 mRNA. Translation: AAF67484.1 .
AY358579 mRNA. Translation: AAQ88942.1 .
AK027517 mRNA. Translation: BAB55170.1 .
AK075031 mRNA. Translation: BAC11363.1 .
CR749821 mRNA. Translation: CAH18681.1 .
BC119670 mRNA. Translation: AAI19671.1 .
BC119671 mRNA. Translation: AAI19672.1 .
AF175227 mRNA. Translation: AAQ13652.1 . Frameshift.
CCDSi CCDS2862.1. [Q68CQ7-1 ]
RefSeqi NP_001010983.1. NM_001010983.2. [Q68CQ7-1 ]
NP_001265209.1. NM_001278280.1. [Q68CQ7-1 ]
NP_001265210.1. NM_001278281.1. [Q68CQ7-1 ]
NP_060916.1. NM_018446.3. [Q68CQ7-1 ]
NP_690909.1. NM_152932.2. [Q68CQ7-1 ]
XP_006713323.1. XM_006713260.1. [Q68CQ7-1 ]
UniGenei Hs.297304.

3D structure databases

ProteinModelPortali Q68CQ7.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120935. 1 interaction.
STRINGi 9606.ENSP00000266014.

Protein family/group databases

CAZyi GT8. Glycosyltransferase Family 8.

PTM databases

PhosphoSitei Q68CQ7.

Polymorphism databases

DMDMi 152125896.

Proteomic databases

MaxQBi Q68CQ7.
PaxDbi Q68CQ7.
PRIDEi Q68CQ7.

Protocols and materials databases

DNASUi 55830.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000266014 ; ENSP00000266014 ; ENSG00000016864 . [Q68CQ7-1 ]
ENST00000394783 ; ENSP00000378263 ; ENSG00000016864 . [Q68CQ7-1 ]
ENST00000478968 ; ENSP00000419612 ; ENSG00000016864 . [Q68CQ7-1 ]
ENST00000491606 ; ENSP00000418853 ; ENSG00000016864 . [Q68CQ7-1 ]
GeneIDi 55830.
KEGGi hsa:55830.
UCSCi uc003dfi.4. human. [Q68CQ7-1 ]

Organism-specific databases

CTDi 55830.
GeneCardsi GC03M052704.
HGNCi HGNC:24870. GLT8D1.
HPAi HPA010588.
neXtProti NX_Q68CQ7.
PharmGKBi PA134947079.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG74598.
GeneTreei ENSGT00390000016670.
HOGENOMi HOG000112730.
HOVERGENi HBG055240.
InParanoidi Q68CQ7.
OMAi PIDFVPN.
OrthoDBi EOG7RBZ8R.
PhylomeDBi Q68CQ7.
TreeFami TF332433.

Miscellaneous databases

ChiTaRSi GLT8D1. human.
GenomeRNAii 55830.
NextBioi 61037.
PROi Q68CQ7.

Gene expression databases

Bgeei Q68CQ7.
CleanExi HS_GLT8D1.
ExpressionAtlasi Q68CQ7. baseline and differential.
Genevestigatori Q68CQ7.

Family and domain databases

Gene3Di 3.90.550.10. 1 hit.
InterProi IPR002495. Glyco_trans_8.
IPR029044. Nucleotide-diphossugar_trans.
[Graphical view ]
Pfami PF01501. Glyco_transf_8. 1 hit.
[Graphical view ]
SUPFAMi SSF53448. SSF53448. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "gala4a, glycosyltransferase."
    Steffensen R., Bennett E.P.
    Submitted (JAN-2000) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1).
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Adrenal gland.
  3. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  4. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2).
    Tissue: Ovary and Teratocarcinoma.
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Fetus.
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
  7. Sheng H., Qin B.M., Liu Y.Q., Zhao B., Liu B., Wang X.Y., Hui R.T.
    Submitted (AUG-1999) to the EMBL/GenBank/DDBJ databases
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANT HIS-210.
    Tissue: Aorta.
  8. "Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry."
    Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.
    J. Proteome Res. 8:651-661(2009) [PubMed] [Europe PMC] [Abstract]
    Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-249.
    Tissue: Liver.

Entry informationi

Entry nameiGL8D1_HUMAN
AccessioniPrimary (citable) accession number: Q68CQ7
Secondary accession number(s): Q7Z4D1, Q8N2J6, Q9P0I5
Entry historyi
Integrated into UniProtKB/Swiss-Prot: May 29, 2007
Last sequence update: May 29, 2007
Last modified: October 29, 2014
This is version 78 of the entry and version 2 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3